日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Biallelic <italic>TMEM72</italic> Variants in Patients with a Nephronophthisis-Like Phenotype

双等位基因<italic>TMEM72</italic>变异体在具有肾痨样表型的患者中

Claus, Laura R; Snoek, Rozemarijn; Faber, Siebren; Roskothen-Shevchuk, Aurelius J C; Sendino Garví, Elena; Peters, Edith D J; Savelberg, Sanne M C; Duran, Karen; van der Zwaag, Bert; Nguyen, Tri Q; Broekhuizen, Roel; Brummelhuis, Walter J; Rookmaaker, Maarten; van der Veen, Suzanne W; Elferink, Martin G; Karras, Alexandre; Raymond, Laure; Mousseaux, Cyril; Sadeghi-Alavijeh, Omid; Sayer, John A; Olinger, Eric; Neatu, Ruxandra; Klämbt, Verena; Stokman, Marijn F; Knoers, Nine V A M; Tessadori, Federico; Gale, Daniel P; Boldt, Karsten; Ueffing, Marius; Slaats, Gisela G; Roepman, Ronald; Hildebrandt, Friedhelm; Mesnard, Laurent; van Haaften, Gijs; van Eerde, Albertien M

NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD

NPHP1(肾囊蛋白-1)基因缺失导致成人发病型终末期肾病

Snoek, Rozemarijn; van Setten, Jessica; Keating, Brendan J; Israni, Ajay K; Jacobson, Pamala A; Oetting, William S; Matas, Arthur J; Mannon, Roslyn B; Zhang, Zhongyang; Zhang, Weijia; Hao, Ke; Murphy, Barbara; Reindl-Schwaighofer, Roman; Heinzl, Andreas; Oberbauer, Rainer; Viklicky, Ondrej; Conlon, Peter J; Stapleton, Caragh P; Bakker, Stephan J L; Snieder, Harold; Peters, Edith D J; van der Zwaag, Bert; Knoers, Nine V A M; de Borst, Martin H; van Eerde, Albertien M